Search Results - "PANDYA, Arti"
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American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss
Published in Genetics in medicine (01-04-2014)“…Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of…”
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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Published in Genetics in medicine (01-11-2019)“…Purpose Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and…”
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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
Published in Genetics in medicine (01-11-2021)“…Purpose The ClinGen Variant Curation Expert Panels (VCEPs) provide disease-specific rules for accurate variant interpretation. Using the hearing loss-specific…”
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A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2
Published in American journal of human genetics (01-10-2007)“…A single missense mutation was identified in a novel, highly conserved zinc-finger gene, ZCD2, in three consanguineous families of Jordanian descent with…”
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Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases
Published in Case reports in ophthalmological medicine (2020)“…Oculodentodigital dysplasia (ODDD) is a rare genetic disorder associated with a characteristic craniofacial profile with variable dental, limb, eye, and ocular…”
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SLITRK6 mutations cause myopia and deafness in humans and mice
Published in The Journal of clinical investigation (01-05-2013)“…Myopia is by far the most common human eye disorder that is known to have a clear, albeit poorly defined, heritable component. In this study, we describe an…”
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Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families
Published in Molecular genetics & genomic medicine (01-04-2020)“…Background Mutations involving the closely linked GJB2 and GJB6 at the DFNB1 locus are a common genetic cause of profound congenital hearing loss in many…”
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Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment
Published in American journal of medical genetics. Part A (01-06-2011)“…Optic atrophy (OA) and sensorineural hearing loss (SNHL) are key abnormalities in several syndromes, including the recessively inherited Wolfram syndrome,…”
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Etiology of unilateral hearing loss in a national hereditary deafness repository
Published in American journal of otolaryngology (01-09-2012)“…Abstract Purpose The aim of this study was to characterize the genetic, audiologic, and epidemiologic characteristics of unilateral hearing loss (HL) in a…”
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Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans
Published in Molecular genetics & genomic medicine (01-06-2019)“…Background Craniosynostosis, or premature fusion of the skull sutures, is a group of disorders that can present in isolation (nonsyndromic) or be associated…”
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GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf
Published in Annals of human genetics (01-03-2010)“…SUMMARY We screened the GJB2 gene for mutations in 534 (108 multiplex and 426 simplex) probands with non‐syndromic sensorineural deafness, who were ascertained…”
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GPSM2 mutations in Chudley-McCullough syndrome
Published in American journal of medical genetics. Part A (01-11-2012)Get full text
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Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians
Published in Human genetics (01-12-2003)“…Mutations in the GJB2 gene encoding connexin 26 (Cx26) are a major cause of autosomal recessive and sporadic cases of congenital deafness in most populations…”
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Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands
Published in Genetics in medicine (01-07-2003)“…Profound hearing loss occurs with a frequency of 1 in 1000 live births, half of which is genetic in etiology. The past decade has witnessed rapid advances in…”
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A focus group study of consumer attitudes toward genetic testing and newborn screening for deafness
Published in Genetics in medicine (01-12-2006)“…Progress in identifying genes for deafness together with implementation of universal audiologic screening of newborns has provided the opportunity for more…”
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Genetic hearing loss: the journey of discovery to destination – how close are we to therapy?
Published in Molecular genetics & genomic medicine (01-11-2016)“…The Cx26 and Cx30 loci are located on 13q11 region within 40 kb of each other; however, the Cx26 locus is not involved in the deletion. [...]it is unclear if…”
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Repurposing of antiangiogenic agents for treatment of vascular anomalies
Published in Pharmacology & therapeutics (Oxford) (01-10-2023)“…Vascular anomalies (VA) are developmental anomalies of veins, arteries, lymphatics or capillaries thought to be caused by mutations in genes that drive…”
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Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness
Published in Journal of medical genetics (01-06-2001)“…Genomic DNA was extracted from venous blood samples according to a standard protocol. 11 Linkage to known recessive deafness loci (DFNBs) and refinement of the…”
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eP402: Partial trisomy of chromosome 22 mediated by chromoanasynthesis in an 8-month-old male
Published in Genetics in medicine (01-03-2022)Get full text
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Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Published in Genetics in medicine (01-07-2022)“…Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of…”
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